CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

BACKGROUND: Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation. METHOD: Using our in‐house next‐generation sequencing (NGS) pipeline for childhood bronchiectasis, we identified disease‐causing CFTR mutations i...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2016
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241212/
https://ncbi.nlm.nih.gov/pubmed/28116329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.258
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